A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598579



Internal ID16039302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009726..71083639hg38UCSC Ensembl
Innerchr5:70305553..70379466hg19UCSC Ensembl
Innerchr5:70341309..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3873914
hg1973914
hg1873914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1034968
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598579
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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